ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.36A>G (p.Gln12=) (rs763230080)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000495822 SCV000578417 likely benign Breast-ovarian cancer, familial 1 2017-06-29 reviewed by expert panel curation Synonymous substitution variant, with low bioinformatic likelihood to result in a splicing aberration (Splicing prior probability 0.02; http://priors.hci.utah.edu/PRIORS/).
Ambry Genetics RCV000215409 SCV000274205 likely benign Hereditary cancer-predisposing syndrome 2015-03-02 criteria provided, single submitter clinical testing
Invitae RCV000233204 SCV000289783 likely benign Hereditary breast and ovarian cancer syndrome 2016-01-18 criteria provided, single submitter clinical testing
GeneDx RCV000442572 SCV000531585 likely benign not specified 2017-03-07 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency RCV000442572 SCV000586859 likely benign not specified 2017-04-18 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000442572 SCV000600344 likely benign not specified 2017-01-30 criteria provided, single submitter clinical testing

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